Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177944 | SCV000229907 | uncertain significance | not provided | 2014-06-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317043 | SCV000850115 | likely benign | Inborn genetic diseases | 2016-07-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV001086566 | SCV001004928 | likely benign | CHARGE association | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177944 | SCV001829549 | likely benign | not provided | 2020-11-18 | criteria provided, single submitter | clinical testing |